MCID: DYS098
MIFTS: 39

Dystonia-11, Myoclonic malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dystonia-11, Myoclonic

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Aliases & Descriptions for Dystonia-11, Myoclonic:

Name: Dystonia-11, Myoclonic 52 48
Myoclonic Dystonia 23 48 24 25 70 50 68
Hereditary Essential Myoclonus 23 48 24 25
Myoclonus-Dystonia 23 48 24 25
Dyt11 48 24 25 70
Myoclonus-Dystonia Syndrome 48 25 70
Alcohol-Responsive Dystonia 48 25 70
Dystonia, Myoclonic 24 27 12
 
Dystonia 11 23 48 24
Myoclonus, Hereditary Essential 48
Dystonia, Alcohol Responsive 48
Dystonia 11, Myoclonic 70
Dystonia-11 70
Myoclonus 39
Dyt-Sgce 48

Characteristics:

HPO:

64
dystonia-11, myoclonic:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset, incomplete penetrance

GeneReviews:

23
Penetrance: reduced penetrance on maternal transmission of the disease allele has been observed, suggesting that maternal genomic imprinting of sgce suppresses expression of the maternally inherited sgce allele [zimprich et al 2001]...


Classifications:



External Ids:

OMIM52 159900
MedGen37 C1834570

Summaries for Dystonia-11, Myoclonic

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Genetics Home Reference:25 Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected individuals also develop dystonia, which is a pattern of involuntary muscle contractions that causes twisting and pulling movements of specific body parts. The dystonia associated with myoclonus-dystonia may affect a single part of the body, causing isolated problems such as a writer's cramp in the hand, or it may involve multiple areas of the body. Rarely, people with this condition have dystonia as their only symptom.

MalaCards based summary: Dystonia-11, Myoclonic, also known as myoclonic dystonia, is related to dystonia 26, myoclonic and dystonia, and has symptoms including muscular hypotonia, torticollis and depression. An important gene associated with Dystonia-11, Myoclonic is SGCE (Sarcoglycan Epsilon). Affiliated tissues include cerebellum, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and muscle.

OMIM:52 Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal... (159900) more...

UniProtKB/Swiss-Prot:70 Dystonia 11, myoclonic: A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable.

Wikipedia:71 Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous... more...

GeneReviews for NBK1414

Related Diseases for Dystonia-11, Myoclonic

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Graphical network of the top 20 diseases related to Dystonia-11, Myoclonic:



Diseases related to dystonia-11, myoclonic

Symptoms & Phenotypes for Dystonia-11, Myoclonic

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Symptoms by clinical synopsis from OMIM:

159900

Clinical features from OMIM:

159900

Human phenotypes related to Dystonia-11, Myoclonic:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 muscular hypotonia64 rare (5%) HP:0001252
2 torticollis64 HP:0000473
3 depression64 HP:0000716
4 obsessive-compulsive behavior64 HP:0000722
5 anxiety64 HP:0000739
6 agoraphobia64 HP:0000756
7 myoclonus64 HP:0001336
8 tremor64 HP:0001337
9 writer's cramp64 HP:0002356

UMLS symptoms related to Dystonia-11, Myoclonic:


myoclonus, torticollis, tremor

GenomeRNAi Phenotypes related to Dystonia-11, Myoclonic according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-589.8DRD2, SGCE

MGI Mouse Phenotypes related to Dystonia-11, Myoclonic according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5DRD2, SGCE, TOR1A

Drugs & Therapeutics for Dystonia-11, Myoclonic

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Drugs for Dystonia-11, Myoclonic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Zonisamideapproved, investigationalPhase 36768291-97-45734
Synonyms:
1,2-Benzisoxazole-3-methanesulfonamide
1,2-benzoxazol-3-ylmethanesulfonamide
1-(1,2-Benzoxazol-3-Yl)methanesulfonamide
1-(1,2-benzisoxazol-3-yl)methanesulfonamide
3-(Sulfamoylmethyl)-1,2-benzisoxazole
3-sulfamoylmethyl-1,2-benzisoxazole
68291-97-4
AC-1413
AC1L1L0Q
AC1Q55GQ
AD 810
AD-810
AD-810N
AKOS001312269
BIDD:GT0708
BIDD:PXR0183
BRD-K48300629-001-03-8
BRN 1077076
Benzo[D]isoxazol-3-yl-methanesulfonamide
Bio-0532
C022189
C07504
C8H8N2O3S
CHEBI:10127
CHEMBL750
CI 912
CI-912
CID5734
CPD000596519
D00538
DB00909
E-2090
Elan brand of zonisamide
Exceglan
 
Excegram
Excegran
Excegran (TN)
FT-0082702
HMS2089O07
HSDB 7293
I06-0495
LS-33637
MLS001195632
MLS001306491
MolPort-002-507-855
NCGC00159319-02
NCGC00159319-03
PD 110843
PD-110843
S1445_Selleck
SAM002548957
SMR000596519
SPR_2
STK711131
Tremode
Trerief
UNII-459384H98V
ZINC00004321
Zonegran
Zonegran, Zonisamide
Zonisamida
Zonisamida [Spanish]
Zonisamide (JAN/USAN/INN)
Zonisamide (ZNS)
Zonisamide [USAN:BAN:INN:JAN]
Zonisamidum
Zonisamidum [Latin]
zonisamide
zonisamide monosodium
2AntioxidantsPhase 32928
3AnticonvulsantsPhase 32620
4Protective AgentsPhase 37190
5
PromethazineapprovedPhase 222560-87-74927
Synonyms:
(2-Dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine
(2-dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine
(Dimethylamino-2-propyl-10-phenothiazine hydrochloride
10-(2-(Dimethylamino)-2-methylethyl)phenothiazine
10-(2-(Dimethylamino)propyl)phenothiazine
10-(2-Dimethylaminopropyl)phenothiazine
10-[2-(Dimethylamino)propyl]phenothiazine
10-[2-(dimethylamino)Propyl]phenothiazine
10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl- (9CI)
10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl-, radical ion(1+)
3277 RP
3389 R.p.
38878-40-9
4-27-00-01253 (Beilstein Handbook Reference)
4182 R.p.
60-87-7
73745-50-3
A-91033
AB00053535
AC-15939
AC1L1J92
Antiallersin
Aprobit
Avomine
BPBio1_000744
BRN 0088554
BSPBio_000676
BSPBio_002777
C07404
CCRIS 7056
CHEBI:8461
CHEMBL643
CID4927
Camergan
D00494
DB01069
Dimapp
Dimethylamino-isopropyl-phenthiazin
Dimethylamino-isopropyl-phenthiazin [German]
Diphergan
Diprazin
Diprazine
Diprozin
DivK1c_000005
EINECS 200-489-2
Fargan
Fenazil
Fenetazina
Fenetazine
Genphen
HMS2089E08
HSDB 3173
Hiberna
Histargan
IDI1_000005
Iergigan
InChI=1/C17H20N2S/c1-13(18(2)3)12-19-14-8-4-6-10-16(14)20-17-11-7-5-9-15(17)19/h4-11,13H,12H2,1-3H3
Isophenergan
Isopromethazine
KBio1_000005
KBio2_001348
KBio2_003916
KBio2_006484
KBio3_001997
KBioGR_001697
KBioSS_001348
L000495
LS-264
Lercigan
Lergigan
Lilly 01516
Lilly 1516
Lopac0_000899
Metaryl
MolPort-001-783-684
N,N,alpha-Trimethyl-10H-phenothiazine-10-ethanamine
N,N,╬▒-trimethyl-10H-phenothiazine-10-ethanamine
N,N-dimethyl-1-(10H-phenothiazin-10-yl)propan-2-amine
N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine
 
N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine hydrochloride
N-(2'-Dimethylamino-2'-methyl)ethylphenothiazine
N-(2'-dimethylamino-2'-Methyl)ethylphenothiazine
N-Dimethylamino-2-methylethyl thiodiphenylamine
NCGC00015817-10
NCGC00089735-02
NCGC00089735-03
NCI-C60673
NCI60_001878
NINDS_000005
NSC 30321
NSC30321
Oprea1_758749
PROMETHAZINE (SEE ALSO PROMETHAZINE HYDROCHLORIDE 58-33-3)
Pelpica
Phargan
Phenargan
Phenerzine
Phenoject-50
Phensedyl
Pilothia
Pilpophen
Pipolphene
Prestwick0_000888
Prestwick1_000888
Prestwick2_000888
Prestwick3_000888
Pro-50
Proazaimine
Proazamine
Procit
Promacot
Promazinamide
Promergan
Promesan
Prometasin
Prometazin
Prometazina
Prometazina [INN-Spanish]
Prometazine
Prometh
Promethacon
Promethaine
Promethazin
Promethazine
Promethazine (JAN/INN)
Promethazine [INN:BAN]
PromethazineHcl
Promethazinum
Promethazinum [INN-Latin]
Promethegan
Promethiazine
Promezathine
Prorex
Protazine
Prothazin
Prothazine
Provigan
Pyrethia
Pyrethiazine
RP 3277
Remsed
Romergan
Rumergan
SKF 1498
SPBio_000799
SPBio_002895
Spectrum2_000840
Spectrum3_001019
Spectrum4_001149
Spectrum5_000977
Spectrum_000868
Tanidil
Thiergan
UNII-FF28EJQ494
Valergine
Vallergine
WLN: T C666 BN ISJ B1Y1&N1&1
WY 509
Zipan-25
promethazine
6
DiphenhydramineapprovedPhase 222558-73-1, 147-24-03100
Synonyms:
147-24-0
147-24-0 (HYDROCHLORIDE)
2-(Benzhydryloxy)-N,N-dimethylethylamine
2-(Benzhydryloxy)-N,N-dimethylethylamine, hydrochloride
2-(Diphenylmethoxy)-N,N-dimethylethylamine
2-(diphenylmethoxy)-N,N-dimethylethanamine
2-Diphenylmethoxy-N,N-dimethylethylamine
2-[(diphenylmethyl)oxy]-N,N-dimethylethanamine
2-benzhydryloxy-N,N-dimethylethanamine
2-benzhydryloxyethyl-N,N-dimethylammonium
2-diphenylmethoxy-N,N-demthylethanamine
2PM
58-73-1
88637-37-0 (citrate (1:1))
AB00053460
AC-13704
AC1L1F65
AKOS003658554
Aleryl
Alledryl
Aller-Med
Allerdryl
Allergan
Allergan B
Allergeval
Allergical
Allergina
Allergival
Allermax Caplets
Amidryl
Antistominum
Antitussive
Antomin
Automin
BENADRYL HCl
BIDD:GT0152
BPBio1_000275
BRD-K47278471-003-05-7
BRN 1914136
BSPBio_000249
BSPBio_002219
Bagodryl
Banophen
Banophen Caplets
Baramine
Beldin
Belix
Ben-allergin
Bena
Benachlor
Benadrin
Benadryl
Benadryl (hydrochloride)
Benadryl Allergy
Benapon
Bendylate
Benhydramin
Benodin
Benodine
Benylan
Benylin
Benzantin
Benzantine
Benzhydramine
Benzhydraminum
Benzhydril
Benzhydroamina
Benzhydryl
Betramin
CAS-147-24-0
CCRIS 1959
CHEBI:127629
CHEBI:4636
CHEMBL657
CID3100
CPD-10890
Compoz
D00300
DB01075
DB06975
DIPHENHYDRAMINE, ANTISTOMINUM, BENZHYDRAMINE
Dabylen
Debendrin
Dermistina
Dermodrin
Desentol
Diabenyl
Diabylen
Dibendrin
Dibenil
Dibondrin
Difedryl
Difenhidramina
Difenhidramina [INN-Spanish]
Difenhydramin
Difenhydramine
Difenidramina
Difenidramina [Italian]
Dihidral
Dimedrol
Dimedrol base
Dimedrolum
Dimedryl
Dimehydrinate
Dimethylamine benzhydryl ester
Diphamine
Diphantine
Diphen
 
Diphen Cough
Diphenhist
Diphenhist Captabs
Diphenhydramine
Diphenhydramine (JP15/INN)
Diphenhydramine Base
Diphenhydramine HCl
Diphenhydramine [INN:BAN:JAN]
Diphenhydraminum
Diphenhydraminum [INN-Latin]
Diphenylhydramin
Diphenylhydramine
DivK1c_000368
Dobacen
Dormarex 2
Dryistan
Drylistan
Dylamon
EINECS 200-396-7
Etanautine
FAR 90X2
Genahist
HMS2089E06
HSDB 3066
Histaxin
Hyadrine
Hydramine
Hyrexin
I14-6749
IDI1_000368
Ibiodral
KBio1_000368
KBio2_001460
KBio2_004028
KBio2_006596
KBio3_001439
KBioGR_001099
KBioSS_001460
L000227
LS-68208
Lopac-D-3630
Lopac0_000377
MLS002222276
Medidryl
Mephadryl
MolPort-001-783-508
N,N-Dimethyl-2-(diphenylmethoxy)-ethylamine hydrochloride
N-(2-(Diphenylmethoxy)ethyl)-N,N-dimethylamine
N-(Benzhydryloksy-etylo)dwumetyloamina
N-(Benzhydryloksy-etylo)dwumetyloamina [Polish]
N-[2-(BENZHYDRYLOXY)ETHYL]-N,N-DIMETHYLAMINE
NCGC00015335-01
NCGC00015335-02
NCGC00015335-03
NCGC00015335-10
NCGC00024414-03
NCGC00024414-04
NCI60_002916
NCI60_022782
NINDS_000368
NSC665800
Nausen
Nervine Nighttime Sleep-Aid
Novamina
Nytol Quickcaps
Nytol Quickgels
O-Benzhydryldimethylaminoethanol
O-benzhydryldimethylaminoethanol
Oprea1_254625
PM 255
Prestwick0_000065
Prestwick1_000065
Prestwick2_000065
Prestwick3_000065
Probedryl
Restamin
Restamin (TN)
Rigidil
S51
SMR001307259
SPBio_000961
SPBio_002170
STK103720
STOCK2S-94461
Siladryl
Silphen
Sleep-Eze D
Sleep-Eze D Extra Strength
Spectrum2_000961
Spectrum3_000400
Spectrum4_000520
Spectrum5_000915
Spectrum_000980
Syntedril
Syntodril
TL8003758
Twilite Caplets
UNII-8GTS82S83M
Unisom Sleepgels Maximum Strength
alpha-(2-Dimethylaminoethoxy)diphenylmethane
beta-Dimethylamino-aethyl-benzhydryl-aether
beta-Dimethylamino-aethyl-benzhydryl-aether [German]
beta-Dimethylaminoethanol diphenylmethyl ether
beta-Dimethylaminoethyl benzhydryl ether
beta-Dimethylaminoethylbenzhydrylether
beta-dimethylaminoethyl benzhydryl ether
diphenhydramine
nchembio747-comp18
╬▓-dimethylaminoethyl benzhydryl ether
7Dihydroxyphenylalanine140

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy Trial of Zonisamide for Myoclonus DystoniaCompletedNCT01806805Phase 3
2Pilot Efficacy Study of T2000 in Myoclonus DystoniaTerminatedNCT00506012Phase 2
3Abnormal Movements, Cerebellum and Sensorimotor : Oculomotor StudyCompletedNCT01495897
4The Dystonia Coalition Natural History and Biospecimen Repository for Isolated DystoniasRecruitingNCT01373424

Search NIH Clinical Center for Dystonia-11, Myoclonic


Cochrane evidence based reviews: myoclonus

Genetic Tests for Dystonia-11, Myoclonic

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Genetic tests related to Dystonia-11, Myoclonic:

id Genetic test Affiliating Genes
1 Myoclonic Dystonia27
2 Dystonia, Myoclonic24 DRD2
3 Myoclonus-Dystonia24 SGCE

Anatomical Context for Dystonia-11, Myoclonic

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MalaCards organs/tissues related to Dystonia-11, Myoclonic:

36
Cerebellum

Publications for Dystonia-11, Myoclonic

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Variations for Dystonia-11, Myoclonic

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UniProtKB/Swiss-Prot genetic disease variations for Dystonia-11, Myoclonic:

70 (show all 13)
id Symbol AA change Variation ID SNP ID
1SGCEp.Leu196ArgVAR_026750rs121908491
2SGCEp.Thr36ArgVAR_066732
3SGCEp.His60ProVAR_066733
4SGCEp.His60ArgVAR_066734
5SGCEp.Met92ThrVAR_066735
6SGCEp.Trp100GlyVAR_066736
7SGCEp.Gly112ArgVAR_066737
8SGCEp.Tyr115CysVAR_066738
9SGCEp.Leu175SerVAR_066739
10SGCEp.Ser177CysVAR_066740
11SGCEp.Leu184ProVAR_066741
12SGCEp.Trp270ArgVAR_066742
13SGCEp.Cys271TyrVAR_066743rs372686312

Clinvar genetic disease variations for Dystonia-11, Myoclonic:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1SGCENM_003919.2(SGCE): c.771_772delAT (p.Cys258Terfs)deletionPathogenicrs794727794GRCh37Chr 7, 94232655: 94232656
2SGCENM_003919.2(SGCE): c.289C> T (p.Arg97Ter)SNVPathogenicrs121908489GRCh37Chr 7, 94257615: 94257615
3SGCENM_003919.2(SGCE): c.304C> T (p.Arg102Ter)SNVPathogenicrs121908490GRCh37Chr 7, 94257600: 94257600
4SGCESGCE, 1-BP DEL, 565AdeletionPathogenicChr na, -1: -1
5SGCESGCE, 97-BP DELdeletionPathogenicChr na, -1: -1
6SGCENM_003919.2(SGCE): c.835_839delACAAA (p.Thr279Alafs)deletionPathogenicrs863223283GRCh38Chr 7, 94600844: 94600848
7SGCENM_003919.2(SGCE): c.587T> G (p.Leu196Arg)SNVPathogenicrs121908491GRCh37Chr 7, 94248145: 94248145
8SGCENM_003919.2(SGCE): c.884dupT (p.Leu295Phefs)duplicationPathogenicrs863223284GRCh37Chr 7, 94230111: 94230111
9SGCESGCE, 1-BP DEL, 974CdeletionPathogenicChr na, -1: -1
10SGCENM_003919.2(SGCE): c.1114C> T (p.Arg372Ter)SNVPathogenicrs121908492GRCh37Chr 7, 94228226: 94228226
11SGCENM_003919.2(SGCE): c.464_662del199deletionPathogenicGRCh38Chr 7, 94604254: 94619273
12SGCESGCE, 6,872-BP DEL, EX6DELdeletionPathogenicChr na, -1: -1
13SGCENM_003919.2(SGCE): c.619_620delAG (p.Arg207Glyfs)deletionPathogenicrs863223285GRCh38Chr 7, 94618800: 94618801

Copy number variations for Dystonia-11, Myoclonic from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
122916578800000097900000DeletionDLX5Myoclonus-dystonia
222916678800000097900000DeletionDLX6Myoclonus-dystonia
322916778800000097900000DeletionKRIT1Myoclonus-dystonia
422916878800000097900000DeletionSHFM1Myoclonus-dystonia

Expression for genes affiliated with Dystonia-11, Myoclonic

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Search GEO for disease gene expression data for Dystonia-11, Myoclonic.

Pathways for genes affiliated with Dystonia-11, Myoclonic

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GO Terms for genes affiliated with Dystonia-11, Myoclonic

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Cellular components related to Dystonia-11, Myoclonic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:000585610.0SGCE, TOR1A
2dendriteGO:00304259.0DRD2, SGCE

Biological processes related to Dystonia-11, Myoclonic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of dopamine uptake involved in synaptic transmissionGO:00515849.1DRD2, TOR1A

Sources for Dystonia-11, Myoclonic

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet